PMID- 7610280
OWN - NLM
STAT- MEDLINE
DCOM- 19950815
LR  - 20061115
IS  - 0034-8376 (Print)
IS  - 0034-8376 (Linking)
VI  - 47
IP  - 2
DP  - 1995 Mar-Apr
TI  - [Identification of sex chromosome markers using fluorescence in situ 
      hybridization (FISH)].
PG  - 117-25
AB  - From 6 to 15% of the patients with Turner syndrome have a mosaic karyotype, i.e. 
      a 45,X cell line and another with a small sex chromosome marker of undetermined 
      origin which may be a ring or a centric fragment. It is important to establish 
      whether this marker chromosome derives from a Y chromosome as this implies that 
      the patient has a high risk of developing gonadoblastoma. The objective of the 
      present paper was to identify the origin of small sex chromosome markers using 
      fluorescence in situ hybridization (FISH). Eight patients were studied; seven had 
      a Turner phenotype and one had a short stature with ambiguous genitalia. In all 
      cases karyotype in peripheral lymphocytes showed mosaicism, with one cell line 
      that had a sex chromosome marker, and in three cases, the mosaicism was 
      corroborated in fibroblast cultures. Biotin labeled DNA probes with complementary 
      centromeric alpha-satellite sequences of chromosomes X and Y were used in the 
      FISH technique. In seven patients the chromosome marker came from the X 
      chromosome as established with the X chromosome alpha-satellite probe. In the 
      patient with ambiguous genitalia, the marker did derive from the Y chromosome. We 
      conclude that the FISH technique proved to be useful to establish the origin of 
      sex chromosome markers in our laboratory.
FAU - Gonzalez-del-Angel, A
AU  - Gonzalez-del-Angel A
AD  - Departamento de Investigacion en Genetica Humana, Instituto Nacional de 
      Pediatria, Mexico, D.F.
FAU - Blanco, B
AU  - Blanco B
FAU - del Castillo, V
AU  - del Castillo V
FAU - Carnevale, A
AU  - Carnevale A
LA  - spa
PT  - English Abstract
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
TT  - Identificacion de cromosomas sexuales marcadores mediante hibridacion in situ con 
      fluorescencia (FISH).
PL  - Mexico
TA  - Rev Invest Clin
JT  - Revista de investigacion clinica; organo del Hospital de Enfermedades de la 
      Nutricion
JID - 9421552
RN  - 0 (Genetic Markers)
SB  - IM
MH  - Adolescent
MH  - Cells, Cultured
MH  - Child
MH  - Child, Preschool
MH  - Chromosome Banding
MH  - Female
MH  - Fibroblasts/pathology
MH  - *Genetic Markers
MH  - Genetic Predisposition to Disease
MH  - Gonadoblastoma/genetics
MH  - Humans
MH  - *In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Karyotyping
MH  - Lymphocytes/pathology
MH  - Male
MH  - *Mosaicism
MH  - Noonan Syndrome/*genetics/pathology
MH  - Ovarian Neoplasms/genetics
MH  - Turner Syndrome/*genetics/pathology
MH  - X Chromosome/*ultrastructure
MH  - Y Chromosome/*ultrastructure
EDAT- 1995/03/01 00:00
MHDA- 1995/03/01 00:01
CRDT- 1995/03/01 00:00
PHST- 1995/03/01 00:00 [pubmed]
PHST- 1995/03/01 00:01 [medline]
PHST- 1995/03/01 00:00 [entrez]
PST - ppublish
SO  - Rev Invest Clin. 1995 Mar-Apr;47(2):117-25.